Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia
Bostankolu Değirmenci B et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025
Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia.
Bae GY et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.
Lundgren S et al.
Leukemia, 2021
33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM4_ESM.xlsx › t_som_AA_healthy
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Mekchay P et al.
Medicine, 2020
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
Keller S et al.
European Journal of Medical Genetics, 0
Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.
Coutinho JGV et al.
Journal of Clinical Lipidology, 0
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